Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans

Abstract This study investigated, if genetic variants in BMP2, BMP4 and SMAD6 are associated with variations in the palatal rugae pattern in humans. Dental casts and genomic DNA from 75 patients were evaluated. Each patient was classified as follows: total amount of rugae; bilateral symmetry in the...

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Autores principales:	Alice Corrêa Silva-Sousa, Guido Artemio Marañón-Vásquez, Maria Bernadete Sasso Stuani, Peter Proff, Kesly Mary Ribeiro Andrades, Flares Baratto-Filho, Mírian Aiko Nakane Matsumoto, Eva Paddenberg, Erika Calvano Küchler, Christian Kirschneck
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/0efc3b7f7a6a4b12b9c3c84d70625c5e
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spelling	oai:doaj.org-article:0efc3b7f7a6a4b12b9c3c84d70625c5e2021-12-02T17:41:31ZGenetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans10.1038/s41598-021-92169-02045-2322https://doaj.org/article/0efc3b7f7a6a4b12b9c3c84d70625c5e2021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-92169-0https://doaj.org/toc/2045-2322Abstract This study investigated, if genetic variants in BMP2, BMP4 and SMAD6 are associated with variations in the palatal rugae pattern in humans. Dental casts and genomic DNA from 75 patients were evaluated. Each patient was classified as follows: total amount of rugae; bilateral symmetry in the amount, length and shape of the palatal rugae; presence of secondary or fragmentary palatal rugae; presence of unifications; predominant shape; and predominant direction of the palatal rugae. The genetic variants in BMP2 (rs1005464 and rs235768), BMP4 (rs17563) and SMAD6 (rs2119261 and rs3934908) were genotyped. Genotype distribution was compared between palatal rugae patterns using the chi-square test (alpha = 0.05). The allele A was associated with the presence of secondary or fragmentary rugae for rs1005464 (OR = 2.5, 95%CI 1.1–6.3; p = 0.014). Secondary or fragmentary rugae were associated with the G allele in rs17563 (OR = 2.1, 95%CI 1.1–3.9; p = 0.017). rs17563 was also associated with rugae unification (p = 0.017 in the additive model). The predominant shape (wavy) was associated with rs2119261 (p = 0.023 in the additive model). The left–right symmetry of the length of primary rugae was associated with rs3934908 in the recessive model (OR = 3.6, 95%CI 1.2–11.7; p = 0.025). In conclusion, genetic variants in the BMP pathway impacted on palatal rugae pattern.Alice Corrêa Silva-SousaGuido Artemio Marañón-VásquezMaria Bernadete Sasso StuaniPeter ProffKesly Mary Ribeiro AndradesFlares Baratto-FilhoMírian Aiko Nakane MatsumotoEva PaddenbergErika Calvano KüchlerChristian KirschneckNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Alice Corrêa Silva-Sousa Guido Artemio Marañón-Vásquez Maria Bernadete Sasso Stuani Peter Proff Kesly Mary Ribeiro Andrades Flares Baratto-Filho Mírian Aiko Nakane Matsumoto Eva Paddenberg Erika Calvano Küchler Christian Kirschneck Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans
description	Abstract This study investigated, if genetic variants in BMP2, BMP4 and SMAD6 are associated with variations in the palatal rugae pattern in humans. Dental casts and genomic DNA from 75 patients were evaluated. Each patient was classified as follows: total amount of rugae; bilateral symmetry in the amount, length and shape of the palatal rugae; presence of secondary or fragmentary palatal rugae; presence of unifications; predominant shape; and predominant direction of the palatal rugae. The genetic variants in BMP2 (rs1005464 and rs235768), BMP4 (rs17563) and SMAD6 (rs2119261 and rs3934908) were genotyped. Genotype distribution was compared between palatal rugae patterns using the chi-square test (alpha = 0.05). The allele A was associated with the presence of secondary or fragmentary rugae for rs1005464 (OR = 2.5, 95%CI 1.1–6.3; p = 0.014). Secondary or fragmentary rugae were associated with the G allele in rs17563 (OR = 2.1, 95%CI 1.1–3.9; p = 0.017). rs17563 was also associated with rugae unification (p = 0.017 in the additive model). The predominant shape (wavy) was associated with rs2119261 (p = 0.023 in the additive model). The left–right symmetry of the length of primary rugae was associated with rs3934908 in the recessive model (OR = 3.6, 95%CI 1.2–11.7; p = 0.025). In conclusion, genetic variants in the BMP pathway impacted on palatal rugae pattern.
format	article
author	Alice Corrêa Silva-Sousa Guido Artemio Marañón-Vásquez Maria Bernadete Sasso Stuani Peter Proff Kesly Mary Ribeiro Andrades Flares Baratto-Filho Mírian Aiko Nakane Matsumoto Eva Paddenberg Erika Calvano Küchler Christian Kirschneck
author_facet	Alice Corrêa Silva-Sousa Guido Artemio Marañón-Vásquez Maria Bernadete Sasso Stuani Peter Proff Kesly Mary Ribeiro Andrades Flares Baratto-Filho Mírian Aiko Nakane Matsumoto Eva Paddenberg Erika Calvano Küchler Christian Kirschneck
author_sort	Alice Corrêa Silva-Sousa
title	Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans
title_short	Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans
title_full	Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans
title_fullStr	Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans
title_full_unstemmed	Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans
title_sort	genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/0efc3b7f7a6a4b12b9c3c84d70625c5e
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Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans

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